Aliases for PEX6 Gene
External Ids for PEX6 Gene
Previous GeneCards Identifiers for PEX6 Gene
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
GeneCards Summary for PEX6 Gene
PEX6 (Peroxisomal Biogenesis Factor 6) is a Protein Coding gene. Diseases associated with PEX6 include Peroxisome Biogenesis Disorder 4A and Heimler Syndrome 2. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include ATPase activity and protein C-terminus binding. An important paralog of this gene is NVL.
UniProtKB/Swiss-Prot Summary for PEX6 Gene
Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.